HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HPS6provided by HGNC
Official Full Name: HPS6 biogenesis of lysosomal organelles complex 2 subunit 3provided by HGNC
Primary source: HGNC:HGNC:18817
See related: Ensembl:ENSG00000166189 MIM:607522; AllianceGenome:HGNC:18817
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BLOC2S3
Summary: This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 10q24.32

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (102065349..102068036)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (102950361..102953048)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (103825106..103827793)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Title: Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
Title: Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
we report a novel homozygous c.383 T > C missense variant in HPS6 associated with low cellular levels of HPS6 mRNA and protein in an individual with subclinical oculocutaneous albinism and a history of severe bleeding
Title: Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6
Title: Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk.
Title: A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant.
Title: The ophthalmic presentation of Hermansky-Pudlak syndrome 6.
we report novel HPS6 mutations as the first report of HPS6 mutations in the Japanese population. The clinical features in the two sisters suggest OA. Although the patients in this study showed no bleeding problem, we could establish a diagnosis of HPS-6 by WES.
Title: Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes
Title: HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment.
Title: Targeting protein-trafficking pathways alters melanoma treatment sensitivity.
Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region.
Title: Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hermansky-Pudlak syndrome 6 MedGen: C3888007 OMIM: 614075 GeneReviews: Hermansky-Pudlak Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV Vif interacts with HPS6	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1622 (e-PCR)
- UniSTS:13838

A002B16 (e-PCR)
- UniSTS:68745

A008M26 (e-PCR)
- UniSTS:76715

SGC31936 (e-PCR)
- UniSTS:24309

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in intracellular transport	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid homeostasis	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in organelle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: BLOC-2 complex member HPS6

Names: Hermansky-Pudlak syndrome-6 protein (HPS6); ruby-eye protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.